FACULTY OF HEALTH SCIENCES

MEDICAL CAREER

NATIONAL UNIVERSITY NETWORK

SANTA CRUZ ACADEMIC UNIT

FACULTY OF HEALTH SCIENCES

MEDICINE
THIRD SEMESTER

SUBJECT SYLLABUS
MEDICAL GENETICS

Prepared by: Lic. Georbi Raúl Valencia Juárez

Academic Management 2011

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UDABOL
AQUINO UNIVERSITY BOLIVIA
Accredited as PLENA through RM 288/01

VISION OF THE UNIVERSITY

To be the leading University in educational quality.

MISSION OF THE UNIVERSITY

Develop Higher University Education with quality and

Competitiveness at the service of society.

Dear student:

The Syllabus that we put in your hands is the fruit of the intellectual work of your teachers,
who have put their best efforts into planning the teaching processes to provide you with an
education of the highest quality. This document will serve as a guide for you to better
organize your learning processes and make them much more productive.
We hope you know how to appreciate and take care of it.

Update date: March 2011

Approved by:

SEAL AND SIGN

CAREER HEAD

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SYLLABUS

Subject: MEDICAL GENETICS

Code: MED 302
Requirement: MED 202
Workload: 60 Hours / Semester
Credits: 3

YO. GENERAL OBJECTIVES OF THE SUBJECT.

 DESCRIBE: the generalities and importance of genetics, Heredity and its elements
based on internationally established methods of analysis, interpretation and scientific
study.

 CHARACTERIZE: the physical bases of chromosomes and chromosome mapping,

based on scientific method protocols

 INTERPRET: human genetic diseases susceptible to therapy based on the basic and
specific laws of Medical Genetics

 EXPLAIN: the allelic relationships, taking into account the ligaments and chromosomal
mappings.

 DESCRIBE clearly the main hereditary syndromes.

II. ANALYTICAL PROGRAM OF THE SUBJECT.

UNIT I: GENERAL PRINCIPLES OF GENETICS

Topic 1. DNA during Gametogenesis

1.1. Mitosis and meiosis
1.2. Differences between meiosis of sperm and eggs
1.3. Nucleic acids, DNA and RNA
1.4. Duplication, transcription and translation
1.5. Gene Molecular Biology
1.6. Variations in gene expression

Topic 2. Introduction and Genetic Terminology

2.1. History and chronological development of human genetics
2.2. Modern medical genetics
2.3. Genetic terminology
2.4. Chromosomal basis of inheritance from DNA to karyotype
2.5. Molecular biology techniques

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Theme 3. Normal chromosomes and alterations in number and structure

3.
3.1. Normal chromosomes, structure and classification
3.2. Caryogram and human gene map.
3.3. Mutations: types, mutagenic effects and mutagenesis.
3.4. Alterations in the number of aneuploidies: classification (monosomies, trisomies and
tetrasomies),
3.5. Pathophysiological mechanism of production, polyploidy, classification (triploidies and
tetraploidies).
3.6. Structure alterations: classification (translocations, insertions, deletions, inversions,
ring chromosome, isochromosome). Mixoploidies (Mosaic and chimeras)

Theme 4. Genetic Family Trees

4. d
4.1. Individual symbols: male, female, indeterminate sex, healthy people, carriers,
affected (sick), with more than two diseases, deceased, pregnant women, abortions,
index case, consulting.
4.2. Relationship symbols: couple, consanguineous couple, currently non-existent
relationship, known and unknown biological parents, monozygotic and dizygotic
twins, no offspring, infertility, internal and external adoption.

Topic 5. Simple or monogenic or unifactorial Mendelian inheritance

5. d
5.1. Mendel's Laws
5.2. Autosomal dominant inheritance
5.3. Autosomal recessive inheritance
5.4. Codominant autosomal inheritance
5.5. Inheritance linked to sex chromosomes
5.6. Inheritance influenced by sex

Topic 6. Polygenic or multifactorial inheritance

6. d
6.1. Load concept – threshold
6.2. Heritability
6.3. Consanguinity
6.4. Effect of the environment
6.5. Correlation index

UNIT II: CLINICAL GENETICS

Topic 7. Sexual Differentiation
7. d
7.1. Sex criteria: organic sex and psychosocial sex
7.2. Normal sexual differentiation: chromosome constitution, gonadal differentiation,
differentiation of external and internal genitalia, secondary sexual characteristics.
7.3. Intersexual states: gonadal dysgenesis, true hermaphroditism,
pseudohermaphroditism

Topic 8. Diagnosis of genetic disorders

8. d
8.1. DGPI Preimplantation Genetic Diagnosis.
8.2. Prenatal Genetic Diagnosis: invasive techniques, chorionic villus biopsy,
amniocentesis, fetoscopy; non-invasive ultrasound and biochemical tests.
8.3. Neonatal Genetic Diagnosis. Screening of carriers in the population
8.4. Cariogram

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Topic 9. Genetic Council

9. d
9.1. Probability theory
9.2. Laws of addition and multiplication
9.3. Family planning methods
9.4. Assisted reproduction techniques
9.5. Egg donation. Donor sperm. cryopreservation

Topic 10. New Genetics

10. d
10.1. Concept
10.2. Genetic manipulation instruments, bacteriophages or phages.
10.3. recombinant DNA
10.4. Biotechnological products.
10.5. Transgenic animals and plants.
10.6. Concept of Genetic Engineering. Cloning. Human genome

Topic 11. Medical Genetics

11. d
11.1. Hemoglobin and hemoglobinopathies.
11.2. Genetics and biochemistry
11.3. Immunogenetics. Genetics and cancer
11.4. Genetic factors in common diseases

Topic 12. Genetic Therapy

12. d
12.1. Concept
12.2. Human genetic diseases amenable to therapy
12.3. Transfer of normal genes
12.4. Future of gene therapy

III. PROPOSED ACTIVITIES FOR THE UDABOL BRIGADES

i. Type of subject for social work.

Direct Action Subject (TYPE A).

ii. Summary of the results of the diagnosis carried out to detect the problems to
be solved in the community.
According to the data obtained from the diagnoses carried out by the health institutions
(SEDES) and according to social demand, the public health problem occupies the first
places in terms of the population's concern. Immersed within this problem is the lack of
awareness about the sale (in some cases), use and exposure to teratogenic agents. Since
the project “Information and prevention of the use of teratogenic agents in the female
population of childbearing age” will try to provide comprehensive medium-term solutions to
this problem.

iii. Name of the project to which the subject is related.

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“Information and prevention of the use of teratogenic agents in the female population of
childbearing age.”

iv. Contribution of the subject to the project.

According to the programmatic content of the subject and its connection with the project,
the contribution will consist of assuming the project in the preparation of information
booklets on the teratogens of greatest risk for the population in question, the survey of
known information, the design and participation in training and socialization workshops on
topics of hygiene, handling, consumption and exposure to main teratogenic agents.

v. Activities to be carried out during the semester for the implementation of the
project.

Work to be done by Location, Social impact Date.

students classroom or
laboratory
Organization of project Classroom Between
activities February 18
and 23

Information gathering. Health Centers, Socialization on topics Between March

Mother's Clubs (to of hygiene, handling, 3 and 8
be defined) consumption and
exposure to main
teratogenic agents
Preparation of audiovisual Classroom Training of the actors Between March
teaching material for the involved. 10 and March
workshops. 22

Training and socialization Places previously Actors involved in the Between April
on topics of hygiene, defined by process will be made 14 and 26
handling, consumption and neighborhood aware and trained on
exposure to main boards, Health issues of hygiene,
teratogenic agents. Centers, Mother's handling, consumption Between May
Clubs (to be and exposure to main 19 to June 7
defined by the teratogenic agents.
community).

IV. EVALUATION OF THE SUBJECT

 PROCESSUAL OR TRAINING

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Throughout the semester, 2 types of training activities will be carried out:

The first will be in the classroom, which will consist of theoretical classes, presentations,
short reviews (partials), group work, work papers and GIP's. Participation in virtual
discussion forums (see site address in bibliography). Laboratory as analysis and case
study in teratogenic interactions developed during the brigade raids.

The second will be “open classroom” activities that will consist of the participation of
students in social work activities and in the project “Information and prevention of the use
of teratogenic agents in the female population of childbearing age” through guided work.
Linking the contents of the subject directly to the project through the characterization of
teratogenic alterations and their agents during socializations.

The work, participation and monitoring carried out on these two types of activities will be
taken as a procedural evaluation, grading it between 0 and 50 points regardless of the
number of activities carried out by each student.

The procedural or formative grade is equivalent to 50% of the course grade.

Attendance is 100% mandatory for practical classes and 80% for theoretical classes.
Failure to comply with this rule disqualifies you from the final exam, which implies
automatic failure.

The following will also be evaluated as procedural activities: participation in practical and
theoretical classes, punctuality, and required materials. The material requested for
practical classes is mandatory, under penalty of being registered as non-attendance.

 OF RESULTS OF THE LEARNING OR SUMMARY PROCESSES (partial or final

exam)

Two partial evaluations will be carried out with theoretical and practical content of 50 points
each. The final exam will consist of a written exam with a value of 50% of the grade and the
presentation of the project reports and documents with the remaining 50%.

v. BASIC BIBLIOGRAPHY

Mueller; RF & Young, I.D. “Emery's Medical Genetics” . 10th edition. Ed. Marbán, SL
Madrid. 2001. (Call number COD. 616.042 M88)

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Nussbaum, R.L., McInnes, R.R. & Willard, H.F. “Genetics in Medicine” (Thompson &
Thompson). 5th ed. Ed. Masson, SA Barcelona. 2004. (Call number COD. 616.042 N94)
Jorde LB, Carei JC, Bamshad MJ, White RL. “Medical Genetics” (2nd edition). Harcourt.
Spain. 2000 (Call number COD. 616.042 J76)
Stanfield, William. “Genetics” . 3rd edition. Ed McGraw-Hill. Spain. 1992. (Call number
COD. 575.1 St25)
Pierce, Benjamin. “Genetics: A conceptual approach ” 2nd Edition in Spanish.
Panamericana Medical Editorial. 2005. (Call number COD. 616.042 P59)

WEB BIBLIOGRAPHY

Georbi Valencia. “Biology and Genetics” www.georbi.es.tl

OSN Online Social Networking GmbH. “Build your own family tree” 2007
www.miparentela.com
Lourdes Luengo, “Biology Index” IES http://www.arrakis.es/~lluengo/biologia.html
National University of the Northeast UNNE “Hypertexts in the Area of Biology ”
www.hiperbiologia.net. Fac. of Agroindustries, Saenz Peña, Chaco Argentine Republic
José Luís Checa - Mollet del Valles FAQ's and Notes on Biology and Genetics Barcelona
Spain http://www.biologia-en-internet.com/default.asp?Id=0&Fd=0
Biologia.org “The portal for Biology and Health Sciences ” www.biologia.org. C
ollection of resources on Biology: areas of knowledge, job board, news, newspapers,
magazines..."
Fernando Bort, Pablo Egea, Carlos Rubio MEDE “Biosphere Project”
http://www.proyectosalonhogar.com/galeria_imagenes/galeria_imagenes/
recursos_galeria2.html Ministry of Education and Science of Spain

FURTHER READING.

Basic knowledge to learn genetics Caba, Grover 2004 616.042 C11

Genetic diseases in children Bauza, José 616.042 B32
Genetics of mental disorders Slater, Eliot 1993 616.042 S15
human genetics Solari, Alberto J. 2004 616,042 So42
Microbial genetics Asensio, C. 1977 616,042 As21
Embryology and genetics Dávalos, Fernando 2000 612.64 D27
Genetics of mental disorders Slater, Eliot 1993 616.042 S15

SAW. CALENDAR PLAN.

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WEEK ACADEMIC ACTIVITIES OBSERVATIONS

1st. DNA during Gametogenesis Topic I 11/Aug – 16/Aug
2nd. Gene Molecular Biology Topic I 18/Aug – 23/Aug
3rd. Introduction and Genetic Terminology Topic II 25/Aug – 30/Aug
4th. Molecular biology techniques Topic II 1/Sep – 6/Sep
Normal chromosomes and alterations in
5th . Topic III 8/Sep – 13/Sep
number and structure
Structure alterations
6th. Topic III 15 Sep – 20/Sep
First Partial Evaluation
Genetic Family Trees
7th Topic IV 22Sep – 27/Sep
First Partial Evaluation
Extemporaneous Exams 03/Oct/2008
Simple or monogenic or unifactorial Mendelian
8va. Theme V 29/Sep – 4/Oct
inheritance
9th Polygenic or multifactorial inheritance Topic VI 6/Oct – 11/Oct
10th Sexual Differentiation Topic VII 13/Oct – 18/Oct
11th Diagnosis of genetic disorders Topic VIII 20/Oct – 25/Oct
Preimplantation Genetic Diagnosis DGPI
12th Topic VIII 27/Oct – 1/Nov
Second Partial Evaluation
Neonatal Genetic Diagnosis Second Partial
13th Topic VIII 3/Nov – 8/Nov
Evaluation
Extemporaneous Exams 14/Nov/2008
14th FISH, C.G.H. Topic VIII Nov 10 – Nov 15
15th. Genetic Council Topic IX Nov 17 – Nov 22
16th. Assisted reproduction techniques Topic IX Nov 24 – Nov 29
17th New Genetics Topic X 1/Nov – 6/Dec
18va Medical Genetics Final evaluation Topic XI 8/Dec – 13/Dec
19th Genetic Therapy Final evaluation Topic XII 15/Dec – 20/Dec
Extemporaneous Exams 19/Dec/2008
December 22 and
20ma Second instance exams
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VII. WORK PAPER's

QUALITY CONTROL PROGRAM

WORK PAPER #1

UNIT OR TOPIC: DNA DURING GAMETOGENESIS

TITLE: DNA
DELIVERY DATE: 2nd week

DNA as an information store

In reality, it can be considered a storehouse of information (message) that is transmitted from
generation to generation, containing all the information necessary to build and sustain the
organism in which it resides.
The workers of this mechanism can be considered to be proteins. These can be structural, such
as the proteins of muscles, cartilage, hair, etc., or functional, such as those of hemoglobin, or the
countless enzymes of the body. The main function of heredity is the specification of proteins,
with DNA being a kind of blueprint or recipe for our proteins. Sometimes we call the modification
of DNA that causes protein dysfunction a disease, other times, in a beneficial sense, it will give
rise to what we know as evolution.
The approximately thirty thousand different proteins in the human body are made of twenty
different amino acids, and a DNA molecule must specify the sequence in which those amino
acids are joined together.
The DNA in an organism's genome could be conceptually divided into two, that which codes for
proteins and that which does not code. In the process of making a protein, the DNA of a gene is
read and transcribed into RNA. This RNA serves as a messenger between DNA and the
machinery that will make proteins and that is why it is called messenger RNA. Messenger RNA
instructs the protein-making machinery to assemble amino acids in the precise order to make
the protein.
The central dogma of molecular biology states that the flow of activity and information is:
DNA → RNA → protein
Currently it is assumed that this dogma is true in most cases, but important exceptions are
known: In some organisms (RNA viruses) information flows from RNA to DNA, this process is
known as "reverse transcription" . Additionally, it is known that there are DNA sequences that
are transcribed into RNA and are functional as such, without ever being translated into protein.

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Junk DNA
The so-called junk DNA corresponds to genome sequences from duplications, translocations
and recombinations of viruses, etc., which seem to have no use. They should not be confused
with introns. It corresponds to more than 90% of our genome, which has 20,000 or 25,000
genes. Initially it was thought that they were of no use, but various recent studies suggest that
this may not be true at all. Among other functions, it is postulated that the so-called "junk DNA"
regulates the differential expression of genes. However, for some authors this junk DNA is also
called Intron, that is, non-coding DNA.
DNA chips ( Microarrays )
They are collections of complementary DNA oligonucleotides arranged in fixed rows. These
DNA chips are used to study genetic mutations of known genes or to monitor gene expression of
an RNA preparation.
Applications
DNA research has a significant impact, especially in the field of medicine. Through recombinant
DNA technology, scientists can modify microorganisms that become real factories to produce
large quantities of useful substances; for example insulin. Forensic medicine uses techniques
developed in the course of DNA research to identify criminals. Agriculture and livestock farming
also now use DNA manipulation techniques known as genetic engineering and biotechnology.
Finally, there are others as valuable as the prominence that this acid takes on in the human
genome project, its essential role in transgenic organisms or highlighting its intervention in the
polymerase chain reaction).
Latest developments
On March 31, 2004, Ronald Breaker of Yale University and his colleagues demonstrated that it
is possible to create DNA equivalents. DNA strands are synthesized that catalyze the union
(ligation) between oligonucleotides. Until now, catalytic activity had only been found in RNA (in
addition to proteins).

WORK PAPER QUESTIONNAIRE

What do we mean when we say that DNA is a kind of blueprint or recipe for our proteins?
Explain the process and formation of proteins from the sequence of amino acids
Briefly describe the CENTRAL DOGMA OF MOLECULAR BIOLOGY
What is the difference between introns and so-called junk DNA?
Investigate the application of DNA chips for FORENSIC MEDICINE
Investigate the creation of DNA equivalents by oligonucleotide catalysis

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QUALITY CONTROL PROGRAM

WORK PAPER #2

UNIT OR TOPIC: Introduction and terminology in Genetics

TITLE: MOLECULAR BIOLOGY AND EVOLUTION
DELIVERY DATE: 3rd week

Molecular biology and evolution.

As I could cite some section dedicated to the classical tests of evolution, one of the tests
that the new sciences have provided (not so new anymore) are those corresponding to
biochemical similarities. Many examples can be mentioned of proteins, such as
hemoglobin or cytochromes, with which family trees are drawn between species, and
between individuals of a species, comparing proteins that perform the same function.

The messages that these proteins encode, that is, their genes, can also be compared with
greater reliability. Without going any further, when bacterial or viral epidemics occur,
studies of this type are used to know the phylogeny that relates the different infective
strains and to know which was the first strain and where the first infection occurred.

Molecular anthropology was practically founded by the researcher Luigi Luca Cavalli-
Sforza , in the fifties, when he worked with protein polymorphisms, the so-called
isoenzymes , different molecular forms of an enzyme, instead of with DNA
polymorphisms. He was one of the founders of the HGDP Human Genome Diversity
Project to coordinate the collection and analysis of DNA samples from various ethnic
groups around the globe. But his idea fell into ethical and political entanglements, and
some groups expressed their opposition to this collection, such as the declaration of the
Indigenous Peoples of the Western Hemisphere. HGDP participants have made a
Proposed Model Ethical Protocol for the Collection of DNA Samples, which is available in
Spanish, although it has not been known whether that protocol is in use or not.

POLYMORPHISMS

The so-called single nucleotide polymorphisms (SNPs or single nucleotide polymorphism )

are another important objective of molecular biology applied to the study of evolution.
These are very specific points in the genomes in which a nucleotide can be different in
several individuals, giving rise to different characters, such as the color of the eyes, skin,
hair, the shape of the nose, the ways in which we metabolize substances, etc. A good
example of SNPs are the human blood group alleles.

The blood group gene consists of 1062 base pairs, divided into six exons, on chromosome
9. This gene encodes an enzyme called galactosyl transferase that has the ability to add
galactose (a monosaccharide) to a molecule, for example, a protein. The difference
between group A and B is seven base pairs, of which three are neutral (they do not affect

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the encoded amino acid) and the other four are those that determine the difference: in
positions 523, 700, 793 and 800 From this gene, people with group A have the letters C,
G, C, G; those of group B have G, A, A, C. There are still other combinations, for example,
some people from group A have letters from group B and vice versa. As for group O, the
people who own it only have a single change, but in this case it is not a substitution, but
rather a deletion, that is, the absence of the letter 258, which should be a G. In these
people, the DNA reading shifts one letter and the message is completely changed and
that enzyme is not synthesized. In this case, the effect of this change in people of group O
does not have major consequences, although a correlation has been found with
resistance to certain diseases.

Genes have numerous allelic forms, so that human beings differ from each other by at
least 400 nucleotides (although this figure may have fallen short). (EYE! Not all genetic
differences are due to SNP: we are talking about differences that affect a single
nucleotide, or a pair of nitrogenous bases). However, the majority of SNPs do not produce
phenotypic effects, since they generally appear in non-coding regions of the genome (the
so-called introns), but their interest is due, above all, to their relationship with the
predisposition to certain diseases and susceptibility to some drugs. Some of these SNPs
appear together on a chromosome and cause a tendency towards chromosome deletion,
a type of chromosomal mutation, causing diseases. Certain people share these SNPs and
they are used to diagnose this tendency towards the disease. The specific combinations
of polymorphisms on a chromosome are called haplotypes.

We may have about 3 million of these SNPs in our genome, of which we know almost 1.5
million; only 60,000 of these appear in exons or coding regions. There is a public
database with all these polymorphisms, The SNP Consortium LTD , to which the
International Human Genome Sequencing Consortium has also contributed.

WORK PAPER QUESTIONNAIRE

What are those biochemical similarities that the text refers to? Cite some other examples.

What is the importance of Molecular Anthropology applied to Medicine? Cite some areas in
particular as examples.

What specifically does the HGDP Human Genome Diversity Project refer to? Write some
addresses of websites that deal with these topics in Spanish

What differences exist between introns and exons?

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WORK PAPER #3

UNIT OR TOPIC: CHROMOSOMES AND ALTERATIONS

TITLE: CHROMOSOMIC MUTATIONS
DELIVERY DATE: 4th week

They are changes or alterations in the genetic material, due to exposure to mutagenic agents or
errors in the DNA repair or replication mechanisms, which can be harmful or beneficial, such as
in the production of hybrids. Those that occur in somatic coding cells are not transmitted to

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offspring, but gonadal cells are. Each person carries more than 6 lethal or semi-lethal recessive
mutant alleles, which in a state of homozygosity will have a fatal effect (genetic load of the
population).

Types of mutations . They can be due to microscopic changes or sub-microscopic alterations

that involve a number of nucleotides, also called points.
Point mutations . They can be fixed and dynamic
Fixed or stable mutations . They are simple base substitutions, insertions, deletions and
duplications of a genetic sequence or DNA.
Substitutions . It is the replacement of one simple nucleotide by another, it is the most common.
They may be:
a) By transition . When it involves the same type, axis, one pyrimidine for another
(cytosine for thymidine) or one purine for another (adenine for guanidine)
b) By transversion , when a pyrimidine is replaced by a purine
Deletions . Loss of 1 or more nucleotides can cause interruption in open reading phase when it
occurs in coding sequences and involves 1 or more nucleotides that are not multiples of 3. They
give monosomies for that segment of the chromosome, 2% are fatal, e.g.: Wolf Hirschorn
syndrome or cat's meow, which presents loss of the short arms of chromosomes 4 and 5.
Insertions . Addition of 1 or more nucleotides in a gene. They can interrupt the open reading
phase. They may or may not be 50% balanced.
Dynamic mutations . They are triplet repeat sequences that appear in a greater number of
copies in affected people; they are also called triplet amplifications or expansion. It occurs in
single genes, they can cause mental retardation, Humtington disease, fragile X mental
retardation and myotonic dystrophy.
The mechanism is not clear, it can occur in mitosis and meiosis, due to unequal change between
sister chromatids, breakage of 2 single strands in a repeated sequence with DNA slippage
between the cleavage points; gives rise to phenotypic alterations.
Protein structural mutations . They can be: synonymous or silent and non-silent, they affect
the polypeptide sequences of the proteins they encode.
Silent mutations . It is the substitution of 1 simple base pair and encodes the same amino acid.
Does not alter polypeptides.
Non-silent mutations . They alter the polypeptide, are less frequent, produce alterations in the
amino acid sequence of the gene, which causes functional alteration that is related to diseases;
There are 3 types: with erroneous meaning, without meaning and with changes in the reading
base.
Mutations with wrong meaning . They may result in the coding of a different amino acid and
altered protein synthesis, which may lead to reduction or complete loss of biological activity
(nonconservative substitution). Proteins maintain their functional activity, but not their mobility,
pH or stability, which causes the cell to become fragile, e.g.: alteration of hemoglobin.
Other times, although they give rise to a different amino acid, it is chemically similar and does
not give a functional effect (conservative substitution).
Senseless mutations . When premature termination of translation of the polypeptide chain
occurs. A short chain is unlikely to retain normal biological activity.

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Changes in the reading phase . when the mutation involves the insertion or deletion of a
number of nucleotides that are not multiples of 3. The amino acid sequence of the resulting
protein does not share or resemble normal protein.
Mutations in non-coding DNA . They give phenotypic manifestations when they occur in a
DNA sequence involved in gene regulation of promoter regions or intron junction points. They
affect collagen genes as occurs in osteogenesis imperfecta.
Functional effects of mutations . It is the loss or gain of functions.
Loss of function . The gene does not synthesize or, despite its synthesis, has reduced activity.
It occurs in autosomal recessive disorders. Ex. hemophilia.
The complete loss is called m. Knockout or null allele
In heterozygotes, no phenotypic effects are expected; there are two mechanisms that explain
dominant inheritance: dominant negative mutations and haploinsufficiency.
Dominant negative mutations . When the resulting gene results in loss of activity or function of
its dominant gene products and interferes with the function of the normal gene product of the
other allele, it affects dimeric and multimeric proteins, e.g. collagen
Haploinsufficiency . They are phenotypic effects that mutations produce when they affect half
of the normal values of a gene product (angioneurotic edema, familial hypercholesterolemia,
Porphyry I, acute).
WORK PAPER QUESTIONNAIRE

What are the types of mutations that cause the greatest degenerative damage?

Explain the characteristics of a Knockout or null allele mutation.

QUALITY CONTROL PROGRAM

WORK PAPER #4

UNIT OR TOPIC: MENDELIAN HERITAGE

TITLE: GENETICS
DELIVERY DATE: 6th week

Common Forms of Inheritance

Every child has two copies of each gene in their body: one from the father and one from the
mother. The genes that make up each pair contain instructions for a dominant or recessive trait.
Sometimes genes are altered for some reason and a medical disorder results.

Autosomal dominant inheritance

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If a parent has the gene for an autosomal dominant condition, there is a 50 percent chance (one
chance in two) that the child will have the same condition. Dominant disorders are usually quite
variable, with symptoms that can be non-existent or severe.

Some conditions transmitted by autosomal dominant inheritance are:

 Family high cholesterol
 Huntington's disease, a progressive disorder of the nervous system
 Some forms of glaucoma, which cause blindness if untreated
 Polydactyly: existence of extra fingers or toes
 Marfan syndrome, which affects connective tissue (connective tissue supports and
connects structures in the body; tendons, ligaments, cartilage, and bones are examples
of connective tissue)

Autosomal recessive inheritance

If both parents carry the same recessive gene capable of causing a birth defect, there is a
chance in four that each of their children will inherit the problem. If only one parent passes on
the gene for the disorder, the normal gene received from the other parent will prevent the
condition from manifesting.

Autosomal recessive disorders are often serious and can lead to premature death. Some
conditions transmitted by autosomal recessive inheritance are:
 Sickle cell anemia, a blood disease that primarily affects people of African American and
Hispanic origin
 Tay-Sachs disease, which causes mental retardation and death, primarily in people of
Eastern European Jewish or French Canadian descent
 Cystic fibrosis, a disorder of the lungs and digestive system that primarily affects people
of Northern European Caucasian descent
 Phenylketonuria (PKU), a metabolic disorder that primarily affects Caucasians

X-linked recessive inheritance

The X and Y chromosomes are what determine sex. Normal women have two X chromosomes
and men have one X and one Y chromosome. A disorder caused by an abnormal gene on one
of the X chromosomes is known as an X-linked or sex-linked disorder.

A seemingly normal mother with an abnormal gene on one of her X chromosomes has a 50
percent chance (one in two) of passing it on to her child. A woman who inherits an X
chromosome with a gene for a sex-linked disorder usually has no symptoms of the disease
because she has a spare X chromosome with a normal copy of the same gene. However, men
who inherit an X chromosome with a gene for a sex-linked disease do not have a second
reserve

Some conditions that are transmitted through X-linked recessive inheritance are:
 Hemophilia, in which the blood lacks a substance necessary for clotting
 Red and green color blindness
 Duchenne muscular dystrophy, which causes muscle weakness and death

WORK PAPER QUESTIONNAIRE

Explain, what are the types of glaucomas of genetic origin?

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Determine what are the essential characteristics and traits of Marfan Syndrome?
Explain what are the cytogenic characteristics and biochemical bases of inheritance?
Describe what are the main hemoglobinopathies of genetic origin for humans?
Explain the differences between red and green color blindness.
Explain the symptoms of Duchenne muscular dystrophy.

QUALITY CONTROL PROGRAM

WORK PAPER #5

UNIT OR TOPIC: Genetics and Inheritance

TITLE: Inheritance linked and influenced by sex
DELIVERY DATE: 7th week

It is a form of generation of new individuals in which the descendants can be genetically

very different from their parents, which is due to the fact that they have been formed from
special haploid cells, the so-called sexual reproductive cells or gametes that originate from
meiosis.
1.2.1. Gametic cells and fertilization: gametic cells or gametes are cells from the rest of the
organism that produces them, which arise through meiotic processes. If they are the same,
those produced by both sexes, they are called isogametes and the process of their
formation: isogamy . If they are different, they are called anisogametes or heterogametes
and their formation process is anisogamy or heterogamy.
The most typical variety of anisogamy is oogamy that occurs in metazoans (animals) and
metaphytes (plants) and in which the female macrogamete is the egg in metazoans and the
oosphere in metaphytes while the male microgamete is the sperm in the metazoans and
antherozoid in the metaphytes.
In the human species:

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The sperm. It consists of three parts: head, intermediate piece or segment and tail.
Mitochondria provide energy for movement.
The acrosome, with enzymes to break down the walls of the ovule.
It originates from a differentiation process that occurs in spermatids, which are the cells that
result from the 2nd meiotic division and which are haploid cells but more or less spherical
and lacking a tail.
The ovum. It has a spherical shape and has a membrane, cytoplasm and nucleus. In
addition to the plasma membrane, also called vitelline membrane or primary envelope, it
has a secondary envelope made up of follicular cells, the whole constituting structures
found in the ovary and called follicles that release eggs when they mature. In the cytoplasm
there is a certain amount of yolk made up of reserve substances for the future embryo.
The nucleus has half of the normal chromosomes of the species since the egg is also
formed by meiosis, having, as in the case of the sperm, a differentiation phase, although
less marked, in which reserve substances accumulate.
Fertilization. It is the union of two gametes of different sex to create the egg cell or zygote
that is already diploid (2n) and that through successive mitosis will give rise to a new
individual.
From the point of view of where it occurs, it can be external or internal depending on
whether it is carried out outside or inside the maternal body.
It consists of two stages:
1. Fertilization: consists of the approximation of the gametes and the penetration of the
sperm into the egg. At the place where the acrosome of the sperm comes into contact with
the membrane of the egg, an elevation or prominence occurs called the fertilization cone,
which encompasses the head and the middle piece, leaving out the tail.
The acrosome enzyme that pierces the membrane of the egg is called hyaluronidase.
Once the head and the middle piece have penetrated the egg, it forms a thick
covering on its surface called the fertilization membrane, whose mission is to prevent
polyspermy, that is, the penetration of several sperm into the same egg, which which
would prevent the correct formation of a zygote.
2. Amphimixis: in this stage the nuclei of the sperm and the egg approach each other,
performing karyogamy or fusion of the same, for which the membranes of both are
reabsorbed and a single nucleus is formed in which the chromosomes contributed by
the the two cells that were haploid, which regenerates a normal diploid cell in the
organism of the species. Once the new nucleus is formed, the sperm centriole
doubles, beginning the 1st division of the zygote.
1.2.2. Evolutionary aspects: evolution is the process by which some species have
transformed into others over time. As currently accepted, the mechanism by which it
occurs is that of natural selection that acts on living beings that present great genetic
variability, selecting and surviving those that are best adapted to the characteristics of
the environment. Thus, the existence of great genetic variability in living beings is
essential for evolution to occur. The reason why meiosis and sexual reproduction are
a source of genetic variability is the following: the somatic (body) cells of an individual,
including those that give rise to gametes, are diploid cells (2n), proceeding n
chromosomes from the father and n from the mother; genetic recombination; thus

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giving the opportunity to natural selection to choose the best equipped at all times to
survive in certain circumstances.

QUESTIONNAIRE:

Explains the particularity of sex-linked and sex-influenced inheritance.

Explain the chromosomal differences between spermatogenesis and oogenesis.
To better understand this unit, create a conceptual map of it.
Cite some examples of sex-linked, dominant and recessive inheritance.
Explain the forms of diagnosis for syndromes related to the topic.
Create a glossary of terms reviewed during this topic

QUALITY CONTROL PROGRAM

WORK PAPER #6

UNIT OR TOPIC: Diagnosis of genetic disorders

TITLE: Preimplantation genetic diagnosis
DELIVERY DATE: 10th week

DGPI

Preimplantation genetic diagnosis (PGD) is the selection based on their DNA of embryos to
achieve certain characteristics or avoid some type of congenital defect.
It is performed in in vitro fertilization treatments, before implanting the fertilized embryos in the
uterus.

Process
Before beginning genetic selection, it is necessary to fertilize the eggs in the laboratory. The in
vitro fertilization process consists of the extraction of the eggs and their fertilization in the
laboratory, with the subsequent placement of the resulting embryos within the uterine cavity.

Steps
 The woman must undergo hormonal treatment to stimulate ovulation.
 The eggs are then extracted through the vagina using anesthesia, the man collects a
semen sample, and the fertilization of the eggs is carried out in the laboratory.
 Through an analysis of the cultured embryo cells, the constitution of the chromosomes is
evaluated and the healthy ones are differentiated from the altered ones. According to the

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opinion of the doctors who carry out these processes, by transferring healthy embryos
the possibility of achieving a pregnancy increases.

The cell for analysis is usually obtained from an 8-cell embryo, since this is the time before it is
too delicate and the cells begin to differentiate (just over a day after fertilization):

After making a small hole in the membrane of the embryo, with a pipette one of the cells is
chosen, which is aspirated for subsequent analysis. When an embryo is genetically defective,
the couple can donate it for research or simply discard it.

 After about two days, the embryos are transferred to the uterus. If there are leftover
embryos and they are not defective, they are frozen for another cycle, in case a
pregnancy is not achieved in this one.

Techniques to obtain the genetic material

Polar body biopsy

The polar body biopsy is performed before fertilization to select the eggs with the best chance of
succeeding in the pregnancy. Egg cells contain non-functional cells called polar bodies, which
are formed during meiosis and disappear after fertilization.
Removing one of these cells does not affect the future development of the embryo, but it has the
disadvantage that it does not allow the detection of abnormalities that occur after fertilization or
those that come from the father.

Blastomere biopsy
This technique is performed on an already fertilized embryo with a number of cells between 6
and 10, on the third day after fertilization. It consists of extracting one or two cells from a
developing embryo, when they are pluripotent.

This procedure does not usually affect the structure of the embryo or its development, but it is a
more invasive procedure than the polar body biopsy. Furthermore, when using microscopic
structures, DNA can be damaged in the process, and when using a single cell, the result can be
misleading. This problem is solved by analyzing 2 or more blastomere cells, but this puts the
health of the embryo at risk.

Despite its disadvantages, it is the most used in PGD today since it is the most effective method
known.

Biopsy of extraembryonic tissue

After that, the embryos reach the blastocyst stage. A blastocyst is formed by an outer layer of
cells within which there is an inner cell mass that will give rise to the fetus. The cells are taken
from the outer layer to avoid an invasive procedure.
Although this type of biopsy is less dangerous for the fetus, if this technique is used, fewer
available embryos are obtained, since only 30-60% of embryos can reach the blastocyst stage in
an artificial culture medium. Furthermore, some of the cells of the internal embryonic mass may
not be representative of the general total and give false positives for diseases with mosaicism,
which are usually corrected after a few weeks of development.

To analyze DNA

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PCR (Polymerase Chain Reaction)

This technique allows us to obtain, from a single DNA fragment, many copies of it, without
having to use bacteria or other living beings in the process. This allows individuals or genes to
be identified from a tiny sample of genetic material, as is the case with performing a DNA
analysis.

To identify the genes, agarose gel electrophoresis is used:

This electrophoresis is a procedure that involves injecting DNA into agarose gel and applying an
electrical current to the gel. As a result, smaller DNA strands approach the positive pole faster
than longer strands. The size of the genes, and therefore their identification, is achieved by
comparing the result with a DNA scale containing DNA fragments of known size and their
identification. Substances such as ethidium bromide or agents such as ultraviolet light are also
used in the process.
to facilitate reading the data.

FISH (Fluorescent in situ hybridization)

This is the most advanced technique to date in terms of detecting the location of known DNA
sequences on chromosomes. It uses fluorescent probes that bind only to those parts of the
chromosome with which they show a high degree of similarity. Using fluorescent microscopy, the
junction points between the probe and the chromosome can be found.

Goals
Preimplantation genetic diagnosis can be performed for different reasons:

Avoid diseases
One of the purposes of preimplantation genetic diagnosis is the desire to avoid genetic diseases
in the future baby. Genetic diseases such as hemophilia and some types of cancer can be
avoided, as well as chromosomal diseases such as Down syndrome or cystic fibrosis.

If the mother is a carrier of a sex-linked disease, the baby's sex can be chosen to avoid it.

Assist playback
Selecting the most suitable embryos can help elderly women or women with infertility problems
carry a pregnancy to term.

Choose the baby's characteristics

 Improve the quality of life of the rest of the family:

Many parents may want a boy or girl to play with an existing brother or sister, or to get over the
loss of a previous child.
 Help a brother as a donor:

Recently there have been cases of siblings who needed a transplant and to obtain a compatible
organ, a new sibling who meets the necessary characteristics has been selected.
 Create children with good qualities:

Although there has not yet been any case, through genetic selection it is possible to obtain
children with high abilities in sports, intelligence or physique.

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Controversy

The causes of the controversy that has arisen as a result of this issue are:
 The use of the person as a means to achieve an end, whether it is the happiness of the
parents or the healing of a sibling. This is totally contrary to Kantian ethics. Here is the
dilemma of whether an embryo is a person or not.
 The discarded embryos, which, if they have a defect, are destroyed. The problem is
whether the embryo is considered a person or not.
 The ethics of denying the right to life to an embryo due to having a disability is discussed.
 The possibility of using this technique to create children with abilities above normal, or to
choose characteristics arbitrarily, at the whim of the parents.
 Fear of eugenics, the possibility of trying to create a race of perfect human beings and
trying to "improve the species."

 There is a greater number of genetic defects among people born with in vitro fertilization.
If selecting an embryo for a transplant places it at greater risk of having abnormalities,
you are putting your life at risk for that of another.
 With this diagnosis, the possibility of suffering from a disease in the future can be
predicted; therefore, the use of these techniques can put a person's privacy at risk. If this
technique grows, with a single cell a company may decide not to hire someone.
 This technique is not yet totally reliable and can give false positives and negatives,
leading to error.

QUESTIONNAIRE:

Of all the biopsies described in this document, which one do you consider? Which is the
safest, explain why?
How many types of FISH are there currently and what is the applicability of each of the
existing forms of FISH?
What position would you take on the points of controversy that have arisen as a result of the
development and application of the DGPI?

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IX. DIF's

QUALITY CONTROL PROGRAM

DIF's #1

UNIT OR TOPIC: Sexual differentiation

TITLE: Mitochondrial DNA
DELIVERY DATE: 9th week

Mitochondria also help us understand the evolution of man. As we should already know, these
are organelles that appear in the cytoplasm of all eukaryotic cells, that is, those that have a
nuclear membrane surrounding the genetic material. The function of mitochondria is,
fundamentally, respiratory metabolism: in them, glucose and other organic substrates, such as
other sugars and fatty acids, are completely oxidized to obtain chemical energy in the form of
adenosine triphosphate (ATP), the universal energy molecule (it doesn't matter what organism
we are talking about: it will always transform some organic compound to transfer the inherent
energy of its chemical bonds to ATP).

The structure of a mitochondria is incredibly similar to that of aerobic bacteria, both in its
morphology and physiology. Its shape is elongated, with a double lipid bilayer membrane. The
internal membrane has numerous invaginations giving rise to cristae. What is inside the
mitochondria, or matrix, along with the space between the two membranes, are different
locations for different oxidative pathways.

But this is not what concerns us. The surprising thing about mitochondria is that they have their
own genome. A genome with a circular double helix, like that of bacteria, that replicates
regardless of when the cell nucleus does so, although, unfortunately, it requires the help of some
nuclear genes to be able to divide completely. This similarity to prokaryotes and their need for
the cell nucleus led to the proposal of the so-called endosymbiont hypothesis , practically
demonstrated by indirect evidence, which postulates that, at some point in the development of
life, respiratory bacteria (or their equivalent ancestors ) penetrated the cytoplasm of other cells
and remained there for mutual benefit, as a symbiosis.

Even at the risk of going a little off the topic that I intend to develop below, it is worth reviewing
some surprising similarities between mitochondria (which plant chloroplasts also share) to see
how similar they are to bacteria. Mitochondria have complete genetic systems: they carry out
DNA duplication, transcription and protein synthesis; However, most of the proteins necessary
for these processes are encoded in the nuclear genome.

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Regarding protein synthesis, the resemblance of mitochondria and chloroplasts to organisms

from the prokaryotic kingdom is striking:

 their ribosomes are very similar (both in their structure and in their sensitivity to
antibiotics);

 In chloroplasts and mitochondria, protein synthesis begins with an amino acid called N-
formylmethionine, like bacteria, and not with methionine, as occurs in eukaryotes.

 Chlorolast DNA can be transcribed by the RNA polymerase of E. coli

The mitochondrial genome, known since 1981, has 16,569 nucleotides, corresponding to 37
coding genes (there are no non-coding regions, another similarity with prokaryotes). A very
interesting characteristic is that, in the mitochondria, the genetic code is slightly altered: UGA,
which would be the termination codon, is read as tryptophan by the mitochondria of mammals,
fungi and protozoa, but it is a "stop" signal in floors; the AGG codon, which normally encodes
arginine, encodes "stop" in mammalian mitochondria and serine in those of Drosophila.

Why this exception to the universal genetic code? It is probably because mitochondria encode
so few proteins that an occasional change in a rare codon is tolerable, whereas such a change
in a large genome can alter the function of many proteins and destroy the cell.

All our cells have mitochondria, and the reproductive ones were not going to be any less. When
a cell divides, for example, to replace dying skin cells, the original cell arranges for the two
daughter cells to have an equivalent number of organelles, including mitochondria. However,
when an egg is fertilized by a sperm, a curious phenomenon occurs: the fusion of both occurs in
such a way that, practically, the mitochondria present in the zygote come exclusively from the
egg itself. In other words, the sperm does not provide its mitochondria (in some cases some
"sneak in", but with a really negligible frequency).

Each egg has about 100,000 mitochondria, so we can wonder how a mutation in just one of
them can spread to the entire population. This is done with a process called replicative
segregation: dividing cells leave behind more and more mutants, until the non-mutant
mitochondria disappear.

If we combine this phenomenon with the fact that the mutation rate of mitochondria is well known
and very constant, compared to that of the nuclear genome, and that it also does not suffer from
recombination, we have a perfect tool (not so perfect!) to evaluate the ancestors of a specific
mitochondria or a group of them... as long as that human is a woman, because what is tracked
are the mitochondria that only the egg provides. It is, therefore, an optimal molecular clock.

Genes undergo mutations and these mutations can be reflected in the proteins they encode. It
has been observed that in species for which the separation time in the phylogenetic tree is
known thanks to paleontological methods, the number of different amino acids in the same
protein of the two species can be correlated very well with the separation time. Something
similar happens with DNA. This is what molecular clocks are about.

The mutations that this DNA undergoes are usually neutral, so selection does not eliminate them
and they can be traced.

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The idea is the following: starting from a certain number of mitochondrial genomes from people
from different places on the planet, similarities are compared and drawn, while creating a kind of
"mitochondrial family tree" in which, in the end, there will be a single mitochondria that would be
from which all the others derived. What I am going to say next is very important: this does not
mean that this mitochondria (read, the woman who carried it) is the progenitor of all human
lineages, since the vast majority have become extinct; This woman would be the one who,
thanks to chance, gave rise to that genealogy described. The name given to that woman is Eve,
hence the mistake of considering her the mother of the entire human race.

If it is still not clear, we can try the following intellectual exercise. Let's assume a population with
100 mothers, so that each new generation will have 100 daughters; But not all mothers have
daughters and some have more than one. If there is no daughter, that maternal line becomes
extinct, this happening to all lines sooner or later, until only one remains. Eva would be, in the
words of Allan C. Wilson and Rebecca L. Cann, "the happy woman whose lineage remains."

These two researchers published the first studies of this type in the early 90s. They worked with
182 different types of mitochondrial DNA from 241 individuals, managing to make 27 lineages
based on mitochondrial DNA. The tree they built consisted of two main branches, Africans and
non-Africans, and in the end, both branches led to African individuals. For example, they
estimated that the populations of New Guinea and Australia were founded between 50 and
60,000 years ago. The New Guineans are, for example, a good case to deal with. Due to the
study of their languages, extremely diverse for being on the same island, it was suspected that
the colonization of that island must not have been unique. The mitochondrial DNA showed
several branches within the New Guineans, indicating that the common ancestor of both was not
on the island, but outside it: probably, several different "mothers" related to Asia founded that
population. This shows that residents related by a race do not have to be related in their
mitochondrial DNA. And the opposite also occurs: populations today separated and considered
different racial groups, present common mitochondrial DNA markers, as is the case of some
groups of American Indians with Europeans and Asians.

The final conclusions of this study published in 1991 were that the common ancestor lived about
150,000 to 180,000 years ago in Africa, so the dispersal of the human race has been quite
recent.

These conclusions fit with the paleontological ones: paleontologists assume that the transition
from archaic to modern men in Africa occurred 130,000 years ago: there was a first migration to
Asia and then to Europe. The settlement of America is relatively recent, about 10,000 to 15,000
years ago.

More recent studies, from the year 2000, carried out by Svante Pääbo and others, used not only
a small region of the mitochondrial genome, but the entire mitochondrial genome of 53
individuals from different regions. The age of the most recent common ancestor for
mitochondrial DNA turned out to be 170,000 years, with an error of 50,000.

DIF'S QUESTION:

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Do you consider the theory or hypothesis of mitochondrial endosymbiosis to be

true? Evaluate at least five points in favor and five against to support your
answer.

QUALITY CONTROL PROGRAM

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DIF's #2

UNIT OR TOPIC: GENETIC THERAPY

TITLE: METHODS USED IN GENETIC THERAPY
DELIVERY DATE: 17th. week

METHODS :
They can be viral or chemical
Viral agents . They are used to transport foreign genetic material into cells.
Retroviruses . They are the most developed vectors so far, they integrate into the host's DNA
by making a copy of its RNA molecule, using the reverse transcribed enzyme. If it integrates into
a stem cell, all subsequent cells will inherit a copy of the viral gene.
They are incapable of independent replication and require two elements for their action: a
packaged cell line and a helper virus.
 Packaged cell line . It is a cell line that has been infected by a retrovirus in which the
provirus has been manipulated to lose the region of proviral DNA, called the packaging
sequence. The cells produce all the normal viral proteins, but the provirus cannot be
packaged into infectious viral particles.
 Helper virus or vector . They are retroviral proviruses from which 90% of their viral
content has been removed, leaving minimal DNA sequences necessary to produce copies
of the viral RNA sequences along with the sequences necessary for the packaging of the
viral genomic RNA.

Disadvantages :
1) Only a small sequence of DNA can be introduced into target cells
2) They can only infect dividing cells, so neuronal conditions cannot be treated with
retroviruses.
3) Retroviruses can only be used in cells in vitro
4) They are unstable and cannot be purified, so it is not possible to completely exclude
their potential for contamination and they could have an oncogenic potential.

Adenovirus . They can infect a wide variety of cells.

Advantages :
1) They are stable and can be purified and produce high titers for infection
2) They are susceptible to be used for treatment directed at specific tissues, e.g. the
respiratory
3) They can infect cells that are not dividing and carry large amounts of foreign DNA.
4) It is not integrated into the host genome, which excludes the possibility of insertional
mutagenesis.
Disadvantages :
1) The expression of the introduced gene is unstable and transient
2) They can produce adverse effects secondary to the infection, due to the stimulation of
the host's immune response.
3) They contain genes involved in malignant transformation

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Adeno virus – associated . They are non-pathogenic parvoviruses that require coinfection with
a helper or herpes group adenovirus to achieve infection; they act on the long arm of
chromosome 19 (19q13.3qter).
Advantages .
1) They infect a wide variety of cells and the possibility of gene expression
2) Insurance, due to its specific integration to its location

Disadvantages :
1) They can be activated by any adenovirus infection
2) Only store small fragments of foreign DNA

Herpes virus . They are neurotrophic, they infect nervous tissue, they can have a direct toxic
effect on nerve cells and alterations due to the immune response, they do not integrate into the
host genome so their expression can be reduced.

Other viruses . Influenza, Vaccinia and other RNAs provoke immune response and limit their
potential for repeated use.

Physical agents .
Liposome-mediated DNA transfer . They are a lipid bilayer that surrounds an aqueous vesicle.

Disadvantages . They are not very effective and the expression of the foreign gene is transient,
so the treatment must be repeated

Advantages . They can be introduced into cells or targets with a DNA sequence greater than the
viral vectors, including centromeric and telomeric sequences.

Receptor-mediated endocytosis . Variation of the previous one, which directs the DNA to
specific receptors located on the surface of the cells, so that the gene can be expressed it must
escape from the lysosome.

Oligonucleotides . They are modified RNA sequences called ribozymes, which have intrinsic
catalytic capacity for the separation of transcription RNA. They are unstable.
DIF'S QUESTION:

How is an immune response activated in our body due to prolonged and repeated use of some
viruses?

Evaluate the effectiveness of the methods presented in this document and prepare a
comparative table of the advantages and disadvantages of these methods.

QUALITY CONTROL PROGRAM

RECOMMENDATIONS ON THE PRESENTATION OF THE GIP's:

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- Each GIP carried out in the subject will be developed in the GENETICS PRACTICE
NOTEBOOK , each practice corresponds to a procedural evaluation, evaluated on 50 points
whose distribution or weighting is as follows:

- 20 / 50 points will correspond to punctual attendance and with the material requested for
each practice, the student is obliged to bring said material that means his participatory
attendance; If the student arrives late to class, an appropriate time of 10 minutes will be given
as tolerance. The student who does not attend the practice has a grade of 0/50 points and
will not be able to present the evaluation corresponding to said absence.

- 30 / 50 points correspond to the presentation of the written report of the corresponding

practice, only to present that value in the next practical class without delay, the report can
only be delivered in a group (not individually) by the students who carried out said practice
(the student absent will not be able to present a report and their procedural evaluation is
automatically 0 / 50 points).

- In case of leave justified by the student, he or she may recover the practice with another
subgroup of the teacher, as long as the number of students does not exceed that allowed and
will obtain 10/20 attendance plus the presentation of the report. If you cannot recover the
practice, you must present a license signed by the Head of the Course to be able to present
the practice report with a score of 30/50 points.

- The presentation of the practice report includes the following points:

Number of GIP's corresponding with the respective title

1. Objectives, you will need to formulate at least one or two objectives for the
practice. The objectives are stated in the infinitive verb and in third persons
(ending of the first word in ar, er or ir).

2. Theoretical foundation, they must be complemented with bibliography or

theoretical topics relevant to practice.

3. Development or procedure of the practice indicating the results obtained.

Objectives, foundations and development on 10 points. Schemes, results and conclusions

on 10 points. Questionnaire on 10 points. TOTAL report 30 points.

QUALITY CONTROL PROGRAM

PRACTICAL RESEARCH GUIDE - GIP # 1

TOPIC 2

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TITLE: DNA EXTRACTION

DELIVERY DATE: 2nd week

BASIS
The extraction of DNA from a cell sample is based on the fact that salt ions are attracted to the
negative charges of the DNA, allowing its dissolution and subsequent extraction from the cell. It
begins by lysing (breaking) the cells using a detergent, emptying their molecular content into a
buffer solution in which the DNA is dissolved. At that moment, the buffer contains DNA and a
whole assortment of molecular remains: RNA, carbohydrates, proteins and other substances in
smaller proportions.

The proteins associated with the DNA, which are very long, will have been divided into smaller
chains and separated from it by the action of the detergent. All that remains, therefore, is to
extract the DNA from that mixture of buffer and detergent, for which isoamyl alcohol is used,
probably the only reagent in this practice that is not usually found in a kitchen.

This practice can be carried out perfectly in a normal kitchen at home. What's more, in a
laboratory at a secondary school it is common for there to be no equipment or reagents
necessary to carry it out and, on the contrary, there is always a kitchen (refrigerator with freezer,
blender, ice, etc.). ).

GOALS :
Check the existence of DNA in biological material in animal cells
Use simple techniques to extract DNA from animal tissue and, based on its appearance, confirm
its fibrillar structure.

MATERIALS .
- Chicken's liver
- Glass rod
- Mortar
- Beakers
- Pipette
- Test tube
- Alcohol of 96:
- Sodium chloride 2M
- SDS
- Sand
- Piece of cloth to filter

PRACTICE DEVELOPMENT:

 Grind half a chicken liver in a mortar. Add sand so that when crushing the membranes
can break and the nuclei remain loose.
 Add 50 cubic centimeters of water to the mixture. Stir until making a kind of porridge or
puree.
 Filter several times over a cloth to separate the remains of fabrics that have remained to
be broken.

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 Measure the volume of the filtrate with a measuring cylinder.

 Add an equal volume of 2M sodium chloride to the filtrate. With this we manage to
produce the bursting of the nuclei so that the chromatin fibers are free.
 Next, 1 cubic centimeter of SDS is added. (Note: If this product is not available, it can be
replaced with a dish detergent, Mistol type or similar. I use mistol and it works well for
me). The action of this detergent is to form a complex with proteins and separate them
from DNA. This way, the DNA will be free of the proteins it has associated with it.
 Add 50 cubic centimeters of 96: alcohol using a pipette. It must be done so that the
alcohol slides down the walls of the glass and two layers are formed. At the interface,
DNA precipitates.
 Insert a glass rod and stir in the same direction. Photograph number 9 shows the layers
more precisely. White fibers, visible to the naked eye, adhere to the rod, which are the
result of the grouping of many DNA fibers.

This practice can be completed with a specific DNA stain. We have to take a sample of the
fibers that are deposited on the glass rod and deposit them on a slide. Dye for a few minutes
with a basic dye. Observe under the microscope.

RESULTS:

CONCLUSIONS:

QUESTIONNAIRE
1. Make a diagram of the molecular structure of DNA and RNA.
2. What do you understand by chromatin and chromosomes?
3. How are genotypic and phenotypic characteristics transmitted from one generation to
another?
4. Mention and describe 5 genetic diseases that are not transmitted from parents to children

BIBLIOGRAPHY

 Jorde LB, Carei JC, Bamshad MJ, White RL. “Medical Genetics” (2nd edition).
Harcourt. Spain. 2000 (Call number COD. 616.042 J76)
 Stanfield, William. “Genetics” . 3rd edition. Ed McGraw-Hill. Spain. 1992. (Call
number COD. 575.1 St25)

QUALITY CONTROL PROGRAM

PRACTICAL RESEARCH GUIDE - GIP # 2

THEME 3
TITLE: MAKING KARYOTYPES

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DELIVERY DATE: 3rd week

BASIS:
This exercise is a simulation of how to make karyotypes in humans with digital images of
chromosomes from real studies of human genetics. You will arrange the chromosomes into a
complete karyotype and interpret your results as if you were working in a genetic analysis
program in a hospital or clinic. More than 400,000 karyotype analyzes are performed each year
in the United States and Canada. Imagine that you do these analyzes for some real people and
that your conclusions would drastically affect their lives.

This exercise is designed as an introduction to genetic research in humans. Doing karyotyping is

one of many techniques that allows us to investigate thousands of genetic diseases that can be
found in humans.

GOALS:
- Apply the basic rules on performing a karyotype and its identification.
- Raise students' awareness about the importance of genetic diagnosis techniques

MATERIALS. EQUIPMENT. REAGENTS.

- Practice notebook
- Patient Medical Records
- Karyotypes of the three patients (A, B and C) from the Genetics blog

PRACTICE DEVELOPMENT:
- Analyze the medical histories of three patients, including their karyotypes, and diagnose the
missing or extra chromosomes.
- Perform your karyotype formula

Patient A

Patient A is an almost fully developed fetus of a forty-year-old woman. Chromosomes were

obtained from epithelial cells. The cells were acquired by amniocentesis. (See blog Karyotype of
Patient A).

Patient B

Patient B is a 28-year-old man who is trying to identify the cause of his infertility. The
chromosomes were obtained from nucleated cells from his blood. (See blog Karyotype of
Patient B)

Patient C

Patient C died shortly after birth with many anomalies including polydactyly and a cleft lip. The
chromosomes were obtained from a tissue sample. (See blog Complete the Karyotype of
Patient C)

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RESULTS:

CONCLUSIONS:

QUESTIONNAIRE
1. How do you write a karyotype that belongs to someone with a translocation?
2. How do you cite a triploidy?

BIBLIOGRAPHY
 Nussbaum, R.L., McInnes, R.R. & Willard, H.F. “Genetics in Medicine” (Thompson &
Thompson). 5th ed. Ed. Masson, SA Barcelona. 2004. (Call number COD. 616.042 N94)
 Georbi Valencia. “Biology, Genetics and something else…” http://georbi.blogspot.com
 National University of the Northeast UNNE “Hypertexts in the Area of Biology ”
www.hiperbiologia.net. Fac. of Agroindustries, Saenz Peña, Chaco Argentine Republic

QUALITY CONTROL PROGRAM

PRACTICAL RESEARCH GUIDE - GIP #3
THEME 4
TITLE: FAMILY TREE
DELIVERY DATE: 5th week

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BASIS
The pedigree is a chart that records the genetic line of an individual's background and is used
for Mendelian analysis of a disease or hereditary characteristic, particularly of a family. Specific
symbols, usually squares and circles with varying degrees of shading, are used to designate
normal men and women. Those affected by the disease or trait and heterozygous carriers.
Generations are numbered with Roman numerals on the left, placing the most recent at the
bottom of the graph. Members of each generation are designated with Arabic numerals from left
to right according to age, with the oldest on the left. Sampling begins with the siblings of the
affected person and continues with parents and grandparents and the rest of their close
relatives.

GOALS :
Identify the characteristics of inheritance through the use of the genetic tree

MATERIALS .
- Stationery
- Sheet of sheet paper
- Markers

PRACTICE DEVELOPMENT:
 Enter this address on the Internet: http://www.miparentela.com
 Create your family tree with at least 20 members who must be in four or more
generations.
 The profile data of each member of the family tree must consider: full name,
age, sex, photograph, date of birth, etc.
 Your profile and that of the members must reach at least 85% of the complete total
offered by the page
 Print the final result on a letter-size sheet with the options that the same page allows.
 You will also have to present a large family tree on half a sheet of yellow cardboard by
printing and cutting out partial sections of the heredogram using the “Print Screen” or Print
Screen key and then “paste” into WORD.

RESULTS:

CONCLUSIONS:

QUESTIONNAIRE
1. Answer the questions raised by the following heredograms

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2. What do you understand by hemophilia?

3. Ask your family if there is a family record of any of the following pathologies: cystic fibrosis,
diabetes, lupus erythematosus, rheumatoid arthritis, hemophilia?
4. From the following heredograms, answer the questions in each case.

BIBLIOGRAPHY
William D. Stansfield, “Genetics.” 2nd edition .Ed. McGraw Hill Interamericana de México
1992 COD. 575.1 St25
Mueller Robert, “Medical Genetics.” 10th edition. Ed. Marban. Spain 2001. (Call number
COD. 616.042 M88 c.3)

QUALITY CONTROL PROGRAM

PRACTICAL RESEARCH GUIDE - GIP # 4
TOPIC 5
TITLE: PROBABILITIES
DELIVERY DATE: 6th week

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Make several representative diagrams of:

a) Two sister chromatids
b) Two homologous chromosomes
c) Two pairs of homologous chromosomes
d) A diploid nucleus belonging to an individual with 2n=8
e) A haploid nucleus of the previous individual
Inheritance of a character
1. Reason the truth or falsity of the following statement: The common type body color of
Drosophila is determined by the dominant gene "N" , its recessive allele "n" produces a
black body. When a purebred common type fly is crossed with another black-bodied
one? the fraction of the second generation expected to be heterozygous is 1/2?.
2. In men, the brown eye color "A" dominates over the blue color "a" . A couple in which
the man has brown eyes and the woman has blue eyes have two children, one of them
with brown eyes and the other with blue eyes.
3. Figure out:
o The father's genotype
o The probability that the third child will be blue-eyed.
4. As Mendel discovered, the yellow seeds in peas are dominant over the green ones. In
the following experiments, parents with known phenotypes but unknown genotypes
produced the following offspring:
Parental Yellow Green
TO. yellow x green 82 78
b. yellow x yellow 118 39
c. green x green 0 50
d. yellow x green 74 0
AND. yellow x yellow 90 0

o Give the most probable genotypes of each parent

o For crosses B, D, E, indicate what proportion of the yellow offspring produced in
each of them would be expected to produce green offspring by self-pollination.
5. Achondroplasia is an anomaly determined by an autosomal gene that gives rise to a type
of dwarfism in the human species. Two achondroplastic dwarfs have two children, one
achondroplastic and the other normal.
o Achondroplasia, is it a dominant or recessive character? ? Because ?.
o ? What is the genotype of each of the parents? ? Because ?.
o ? What is the probability that the couple's next offspring will be normal? ? And
what is it achondroplastic? Make a diagram of the crossing.
6. Phenylketonuria (PKU) is a metabolic disorder that is inherited in an autosomal recessive
manner. Two healthy parents have a child with PKU.

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o Indicates the phenotypes and genotypes of all matings that can theoretically give
an offspring affected by PKU.
o ? To which of these types of mating does the case described belong?
o ? What is the probability that the next child will also suffer from the disease?
o ? What will be the probability that a normal (healthy) child of these parents will be
a heterozygous carrier for PKU?
7. The absence of legs in cattle is due to a lethal recessive gene. Of the mating between a
bull and a cow, both hybrids, ? What genotypic proportions are expected in the adult F2?
Amputated calves die at birth.
8. Albinism is a recessive character with respect to normal pigmentation. ? What would be
the offspring of an albino man in the following cases?:
o If you marry a woman with no family history of albinism.
o If he marries a normal woman whose mother was albino.
o If you marry a first cousin with normal pigmentation but whose common
grandparents were albino.
9. Two dondiego plants ( Mirabilis jalapa ) are homozygous for flower color. One of them
produces ivory white flowers and the other, red flowers. Point out the genotypes and
phenotypes of the dondiegos originating from the crossing of both plants, knowing that
"B" is the gene responsible for the ivory color, "R" is the gene that conditions the red
color and that the R and B genes are equipotent (inheritance intermediate).
10. ? How can two individuals, one homozygous and the other heterozygous, that present
the same phenotype, be differentiated? Reason the answer.
11. From the marriage between an albino woman and a pigmented man, whose father was
albino, two bivitelline twins were born. a) Calculate the probability that both are albino b)
That neither is albino c) That one is albino and the other is pigmented. Answer the
previous questions if they are monovitelinos.

QUALITY CONTROL PROGRAM

PRACTICAL RESEARCH GUIDE - GIP #5
TOPIC 5
TITLE: CODOMINANCE
DELIVERY DATE: 7th week

1. In a certain species of plants, the blue color of the flower, (A), dominates over the white color
(a). What could the descendants of the crossing of plants with blue flowers with plants with white
flowers, both homozygous, be like? Make a well done crossing scheme.

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2. In certain species of plants the colors of the flowers can be red, white or pink. It is known that
this character is determined by two allele genes, red (C R ) and white (C B ), co-dominant. What
could the descendants of the cross between plants with pink flowers be like? Make a well done
crossing scheme.

3. In certain species of plants the colors of the flowers can be red, white or pink. It is known that
this character is determined by two allele genes, red (C R ) and white (C B ) co-dominant. What
could the descendants of the cross between plants with pink flowers and plants with red flowers
be like? Make a well done crossing scheme.

4. Certain types of myopia in the human species depend on a dominant gene (A); the gene for
normal vision is recessive (a). What could the children of a normal man and a myopic,
heterozygous woman be like? Make a well done crossing scheme.

5. In the human species , spiked hair depends on a dominant gene (P); The gene that
determines straight hair is recessive (p). What could the children of a man with peaked hair,
homozygous, and a woman with straight hair, homozygous, be like? Make a well done crossing
scheme.

6. In the human species, the ability to fold the tongue depends on a dominant gene (L); The
gene that determines not being able to do it ( straight language ) is recessive (l). Knowing that
Juan can fold his tongue, Ana cannot do it and neither can Juan's father. What are the chances
of Juan and Ana having a son who can fold his tongue? Make a well done crossing scheme.

7. In certain species of plants the colors of the flowers can be red, white or pink. It is known that
this character is determined by two allele genes, red (C R ) and white (C B ) co-dominant. What
could the descendants of the cross between plants with pink flowers and plants with white
flowers be like? Make a well done crossing scheme.

8.- From the marriage between an albino woman and a pigmented man, whose father was
albino, two bivitelline twins were born. a) Calculate the probability that both are albino b) That
neither is albino c) That one is albino and the other is pigmented. Answer the previous questions
if they are monovitelinos.

9. In cattle, the lack of horns is dominant over the presence of horns. A hornless bull was
crossed with three cows. With cow A, which had horns, she had a hornless calf; with cow B, also
horned, she had a horned calf; with cow C, which had no horns, she had a calf with horns. What
are the genotypes of the four parents? What other offspring, and in what proportions, could be
expected from these crosses?

10.- From a cross between two Drosophilas with normal wings, 27 individuals with dumpy wings
and 79 normal ones were obtained. a) What is the nature of the dumpy wings gene?; b) What
were the genotypes of the parents?; c) In a cross between an F1 dumpy fly and one of its
parents, how many flies with normal wings would be expected to obtain from an offspring of
120?

11. Mendel discovered that the yellow color of pea seeds is dominant over the green color. In
the following experiments, plants with known phenotypes, but unknown genotypes, gave rise to
the following offspring:

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1) Yellow x Green = 82 Yellow + 78 Green.

2) Yellow x Yellow = 118 Yellow + 39 Green.
3) Green x Green = 50 Greens
4) Yellow x Green = 74 Yellow
5) Yellow x Yellow = 90 Yellow
Based on the proportion of offspring, indicate the most probable genotypes of each parent.

12. In Andalusian breed chickens, the heterozygous combination of the alleles that determines
black plumage and white plumage gives rise to blue plumage. What offspring will a chicken with
blue plumage have, and in what proportions, if it is crossed with birds of the following plumage
colors: a) Black, b) Blue, and c) White.

13.- Antirrhinum can have pink, white or red flowers. The table details the results of a series of
crosses between various plants and the results obtained:
Offspring Crosses
Red x Pink 126 Red and 131 Pink
White x Pink 88 White and 92 Pink
Red x White 115 Roses
Pink x Pink 43 White, 39 Red and 83 Pink
What genetic mechanism can be deduced from these results?

14.- A couple decides to have 4 children. What is the probability that:

a) Is the father's wish to have four boys fulfilled?
b) Is the mother's wish to have two of each sex fulfilled?
c) Will grandmother's wish of having three boys and a girl come true?
d) If they had a 5th child, what would be the probability that it would be a boy?

15.- In the Holstein-Friesian dairy cattle breed, a recessive r allele produces red and white hair;
the dominant R allele produces black and white hair. If a carrier bull is crossed with carrier cows,
1-determine the probability that a) the first offspring born will be red and white; b) the first four
descendants are black and white. 2- What is the expected phenotypic proportion between the
progeny resulting from backcrossing black and white F1 cows with the carrier bull? 3- If the
carrier bull is crossed with homozygous black and white cows, what phenotypic proportion can
be expected among the progeny resulting from backcrossing the F1 cows with the carrier male?

16.- Bb heterozygous black guinea pigs are crossed with each other. a) What is the probability
that the first three offspring are alternately black-white-black or white-black-white?
b) What is the probability of producing three offspring, two black and one white, in any order?

17.- Huntington's chorea is a rare, fatal disease that usually appears in middle age. It is due to a
dominant allele. A phenotypically normal man in his early 20s notices that his father has
developed Huntington's chorea. a) What is the probability that he himself will later develop the
disease? b) What is the probability that your child will develop it over time?

18.- Consider a series of families with two children in which both parents have been identified as
carriers of an autosomal recessive allele, given that at least one of the children shows the
corresponding phenotype. When adding all the children of such families, what proportion of them
will show said phenotype?

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20. The red color of tomato pulp depends on the presence of a dominant R factor over its r
allele, which gives yellow color. Dwarfism is due to a recessive gene d. There is a variety with
yellow flesh and normal size and another dwarf and red flesh, both pure varieties. a) Could a
variety with red pulp and normal size be obtained? b) and one with yellow and dwarf flesh?; c)
Which one would be obtained first?

QUALITY CONTROL PROGRAM

PRACTICAL RESEARCH GUIDE - GIP #6
TOPIC 5
TITLE: INHERITANCE OF TWO CHARACTERS
DELIVERY DATE: 8th and 9th week

1. Dark hair and brown eye color are considered dominant over light hair and blue eyes. A
man with these characteristics has two children with a woman with light hair and blue
eyes; One of the children has light hair and brown eyes, and the other has blue eyes and
dark hair.
o ? What is the probability that a third child will have light hair and brown eyes?
Reason the answer.
2. In tomato, purple stem color is determined by an autosomal dominant "A" allele. The
recessive allele "a" determines green stem. Another independent autosomal gene
controls the shape of the leaf: the dominant allele "C" determines a leaf with a trimmed

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edge and the recessive allele "c" determines a leaf with an entire edge.
The following table shows the results in three crosses between plants of different
phenotypes. In each case, indicate what the genotypes of the parents are and why.
Parental phenotypes purple/trimmed Purple/whole Green/cropped Green/whole

purple, cropped x green,

321 101 310 107
cropped

purple, cropped x purple

144 48 50 18
cropped

purple, cropped x green,

722 231 0 0
cropped

3. In pea plants, the "L" allele, indicating smooth seeds, is dominant over the "l" allele,
indicating rough seeds, and the "A" allele, indicating yellow color, is dominant over the
"a" allele. , which indicates green color. If a pure smooth yellow variety is crossed with a
pure rough green variety,
o What is the genotype and phenotype of the first filial generation (F1)?
o Indicate the phenotypes of the second generation (F2) and the proportion of each
of them that results from the self-fertilization of the F1 plants.
4. Chickens with clipped wings and legs are called climbers. Mating this type of chicken
with normal birds results in balanced offspring between normal and climbing chickens.
Mating climbing chickens with each other produces offspring consisting of two climbing
chickens and one normal chicken. Crossing between normal chickens results in uniform
progeny consisting exclusively of normal birds. Explain the phenomenon in a reasoned
way.

5. In the pea, the characters long stem and red flower dominate over dwarf stem and white
flower. ? What will be the proportion of double homozygous plants that can be expected
in the F2 obtained from a cross between two pure lines, one with a long stem and white
flower and another with a dwarf stem and red flower? Indicate the genotype of all
homozygous plants that can appear in F2. Reason the answer.
6. The red color of tomato pulp depends on the presence of the R factor, dominant over its r
allele for yellow. Dwarfism is due to a recessive gene d. There is a homozygous variety
with yellow flesh and normal size and another dwarf variety with red flesh.
o ? Could a homozygous variety with red flesh and normal size be obtained from
the available varieties?
o ? And a variety with yellow flesh and a dwarf size? Reason your answer.
7. Myopia is due to a dominant gene, just like the Rh+ phenotype. A woman with normal
Rh+ vision, daughter of an Rh- man, has offspring with a heterozygous myopic Rh- man.
Establish the foreseeable genotypes and phenotypes of the couple's children.
8. Tay-Sachs disease is a recessive inherited disease that causes death in the first years of
life when it is in a homozygous condition. The abnormally short fingers, brachyphalangia,
are thought to be due to the heterozygous genotype for a lethal gene, with the BB

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individual being normal. ? What are the expected phenotypes among adolescent children
born to brachyphalangeal parents and heterozygotes for Tay-Sachs disease?
9. Two abnormal conditions in man, cataracts and bone fragility, are due to dominant
alleles. A man with cataracts and normal bones whose father had normal eyes married a
woman without cataracts but with brittle bones, whose father had normal bones. What is
the probability of ?:
o Have a completely normal child
o Have cataracts and normal bones
o Have normal eyes and fragile bones
o That he suffers from both diseases.

10. Fat mice can be produced by two independent genes. The "oo" genotype generates a fat
and sterile mouse, called obese; its dominant "O" allele gives rise to normal growth. The
recessive "aa" genotype also produces a fat, sterile mouse called adipose, while its
dominant allele causes normal growth. ? What phenotypic proportions of fat versus
normal mice can we expect in F1, the parents being of genotype OoAa .

QUALITY CONTROL PROGRAM

PRACTICAL RESEARCH GUIDE - GIP #7
TOPIC 5
TITLE: MULTIPLE ALLELES: BLOOD GROUPS
DELIVERY DATE: 11th and 12th week

1. What are the possible blood groups of a descendant of a cross between individuals who
are type AB and type O?

2. Could a woman with blood type A whose father had blood type O and a man with blood
type B whose parents are AB have an offspring with blood types A? type B? type AB?
Type O? Identify the genotypes

3. A man with blood group A and a woman whose type is unknown have a son with blood
group B, and a daughter with group O. What is the probable genotype of the mother?

4. In a marriage, the woman has blood group AB and the man has blood group B. Their
children are ¼ group A, ¼ group AB and ½ group B. Determine the genotypes of the
parents

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5. If the four blood groups are represented among the children of a marriage, what are the
genotypes of the parents?

6. In the following two cases of doubtful paternity, determine the probable father of the
child:
A) the mother belongs to group B, the son to group O, one possible father to group A and the
other to AB
B) the mother belongs to group B, the son to group AB, one possible father to group A and the
other to group B

7. A man with blood group O and a woman whose type is unknown have two children, one
with group A, and one with group B. What is the probable genotype of the mother?

8. A homozygous couple has two children, both from group AB, determine the genotypes of
the participants?

9. With the data from the previous problem, calculate how the partner of one of those
children would have to have descendants from groups A and B in a proportion of 50%

10. A mother with blood group AB whose child is blood group B, what possible genotypes
could be that of his father?

11. For a couple to have 50% descendants of blood type A and 50% B, calculate the
necessary genotype(s) of the parents and children of this family.

12. With what blood type will a type A homozygote have to be combined to achieve children
100% of the same blood group, indicate the genotypes and phenotypes

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